Variant report

Variant	rs59610227
Chromosome Location	chr11:73363280-73363281
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr11:73363120-73363620	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:73363171-73363962	HepG2	liver:	n/a	n/a
3	TEAD4	chr11:73363146-73363747	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:73363272-73363748	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:73362925-73363515	K562	blood:	n/a	n/a
6	NFIC	chr11:73363052-73363904	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:73363150-73363769	HepG2	liver:	n/a	n/a
8	MAX	chr11:73363020-73364035	HepG2	liver:	n/a	chr11:73363392-73363402 chr11:73363585-73363594 chr11:73363237-73363246 chr11:73363392-73363402 chr11:73363390-73363403 chr11:73363391-73363402
9	HNF4A	chr11:73363207-73363870	HepG2	liver:	n/a	chr11:73363480-73363492 chr11:73363477-73363495 chr11:73363478-73363493 chr11:73363480-73363492 chr11:73363480-73363492 chr11:73363479-73363492
10	USF1	chr11:73363259-73363575	HepG2	liver:	n/a	chr11:73363391-73363402
11	MAX	chr11:73363219-73363611	HepG2	liver:	n/a	chr11:73363392-73363402 chr11:73363585-73363594 chr11:73363237-73363246 chr11:73363392-73363402 chr11:73363390-73363403 chr11:73363391-73363402
12	HNF4G	chr11:73363252-73363730	HepG2	liver:	n/a	chr11:73363479-73363494 chr11:73363480-73363492 chr11:73363477-73363495 chr11:73363480-73363492 chr11:73363480-73363492 chr11:73363479-73363492
13	HDAC2	chr11:73363212-73363837	HepG2	liver:	n/a	n/a
14	EP300	chr11:73363166-73364004	HepG2	liver:	n/a	n/a
15	RCOR1	chr11:73363119-73363654	HepG2	liver:	n/a	n/a
16	USF2	chr11:73363161-73364139	HepG2	liver:	n/a	n/a
17	CTCF	chr11:73363180-73363330	HepG2	liver:	n/a	chr11:73363293-73363302
18	MYBL2	chr11:73362974-73363891	HepG2	liver:	n/a	n/a
19	HNF4A	chr11:73363218-73363759	HepG2	liver:	n/a	chr11:73363480-73363492 chr11:73363477-73363495 chr11:73363478-73363493 chr11:73363480-73363492 chr11:73363480-73363492 chr11:73363479-73363492
20	SP1	chr11:73363185-73363932	HepG2	liver:	n/a	chr11:73363518-73363528 chr11:73363856-73363868 chr11:73363857-73363866 chr11:73363856-73363868
21	EP300	chr11:73363152-73363892	HepG2	liver:	n/a	n/a
22	MXI1	chr11:73363212-73363969	HepG2	liver:	n/a	chr11:73363393-73363402 chr11:73363581-73363596 chr11:73363393-73363402 chr11:73363579-73363594
23	RAD21	chr11:73363280-73363660	HepG2	liver:	n/a	chr11:73363425-73363439 chr11:73363421-73363440
24	MYC	chr11:73363219-73363689	HepG2	liver:	n/a	chr11:73363392-73363402 chr11:73363585-73363594 chr11:73363237-73363246 chr11:73363392-73363402 chr11:73363390-73363403 chr11:73363391-73363402

Variant related genes	Relation type
PLEKHB1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11822264	1.00[EUR][1000 genomes]
rs11822655	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11823400	1.00[EUR][1000 genomes]
rs11824937	1.00[EUR][1000 genomes]
rs11825819	1.00[EUR][1000 genomes]
rs11826017	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11827951	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11828393	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829005	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829012	1.00[EUR][1000 genomes]
rs12295455	1.00[EUR][1000 genomes]
rs17132260	1.00[EUR][1000 genomes]
rs17132408	1.00[EUR][1000 genomes]
rs2462620	1.00[EUR][1000 genomes]
rs2512635	1.00[EUR][1000 genomes]
rs56237750	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56378817	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57579114	1.00[EUR][1000 genomes]
rs57968718	0.83[AMR][1000 genomes]
rs58792356	1.00[EUR][1000 genomes]
rs59621450	1.00[EUR][1000 genomes]
rs60924318	1.00[EUR][1000 genomes]
rs61701946	1.00[EUR][1000 genomes]
rs645579	1.00[EUR][1000 genomes]
rs675838	1.00[EUR][1000 genomes]
rs676346	1.00[EUR][1000 genomes]
rs7940496	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv525173	chr11:73356872-73364673	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv521125	chr11:73359236-73378142	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv528592	chr11:73360888-73364673	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73357200-73364000	Weak transcription	Liver	Liver
2	chr11:73357800-73364200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:73359000-73371600	Weak transcription	Fetal Brain Female	brain
4	chr11:73359000-73371600	Weak transcription	Right Ventricle	heart
5	chr11:73359200-73367200	Weak transcription	Spleen	Spleen
6	chr11:73359200-73371600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:73359200-73371600	Weak transcription	Thymus	Thymus
8	chr11:73359200-73371800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:73359400-73363400	Weak transcription	Stomach Mucosa	stomach
10	chr11:73359400-73367000	Weak transcription	Lung	lung
11	chr11:73359400-73371800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:73359600-73363400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:73359600-73372200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:73359800-73371800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:73359800-73371800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:73361200-73363600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:73361400-73367800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:73361600-73364600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr11:73361600-73365800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:73361800-73369200	Strong transcription	Primary T cells from cord blood	blood
21	chr11:73362000-73375000	Weak transcription	Aorta	Aorta
22	chr11:73362200-73364000	Enhancers	Fetal Intestine Small	intestine
23	chr11:73362400-73363800	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:73362400-73364200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:73362400-73365000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:73362400-73366600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:73362600-73363800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:73362600-73364000	Enhancers	Pancreas	Pancrea
29	chr11:73362600-73364400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:73362600-73364400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:73362600-73364400	Enhancers	HMEC	breast
32	chr11:73362800-73363600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:73362800-73363800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr11:73362800-73363800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:73362800-73363800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:73362800-73363800	Enhancers	Gastric	stomach
37	chr11:73362800-73364000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:73362800-73364000	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr11:73362800-73364200	Flanking Active TSS	HepG2	liver
40	chr11:73362800-73364400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:73362800-73364400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:73362800-73366600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:73362800-73367600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:73363000-73363400	Enhancers	Duodenum Mucosa	Duodenum
45	chr11:73363000-73363800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr11:73363000-73363800	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr11:73363000-73363800	Enhancers	Brain Germinal Matrix	brain
48	chr11:73363000-73363800	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr11:73363000-73364000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:73363000-73364000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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